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Point mutations in the promoter region of the CYBB gene leading to mild chronic granulomatous disease.

Authors: Weening, RS  De Boer, M  Kuijpers, TW  Neefjes, VM  Hack, WW  Roos, D 
Citation: Weening RS, etal., Clin Exp Immunol. 2000 Dec;122(3):410-7.
Pubmed: (View Article at PubMed) PMID:11122248

Chronic granulomatous disease (CGD) is a clinical syndrome of recurrent bacterial and fungal infections caused by a rare disorder of phagocytic cells. In CGD, the phagocytes are unable to generate oxygen radicals after stimulation of these cells, due to a defect in the NADPH oxidase system. This NADPH oxidase is a multicomponent enzyme of at least four subunits, of which the beta-subunit of cytochrome b558, gp91-phox, is encoded by an X-linked gene (called CYBB). We report here five patients from two families; in each family we found a different mutation in the promoter region of CYBB. Both mutations prevented the expression of gp91-phox in the patients' neutrophils and thus caused inability of these cells to generate oxygen radicals. However, the mutations left the gp91-phox expression and the function of the NADPH oxidase in the patients' eosinophils intact. The relatively mild course of the CGD in these patients can probably be attributed to the fact that the eosinophils have retained their oxidative capacity. Furthermore, our results indicate that neutrophils and eosinophils differ in their regulation of gp91-phox expression.

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RGD Object Information
RGD ID: 11040566
Created: 2016-03-11
Species: All species
Last Modified: 2016-03-11
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.